Three cases of multicentric carpotarsal osteolysis syndrome: a case series.

Autor: Park PG; Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Korea., Kim KH; Department of Pediatrics, National Health Insurance Service Ilsan Hospital, Goyang, Korea., Hyun HS; Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Korea., Lee CH; Division of Rheumatology, Department of Internal Medicine, National Health Insurance Service Ilsan Hospital, Goyang, Korea., Park JS; Division of Rheumatology, Department of Internal Medicine, National Health Insurance Service Ilsan Hospital, Goyang, Korea., Kie JH; Department of Pathology, National Health Insurance Service Ilsan Hospital, Goyang, Korea., Choi YH; Department of Radiology, Seoul National University College of Medicine, Seoul, Korea., Moon KC; Department of Pathology, Seoul National University Hospital, Seoul, Korea., Cheong HI; Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 03080, Korea. cheonghi@snu.ac.kr.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. cheonghi@snu.ac.kr.; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea. cheonghi@snu.ac.kr.; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea. cheonghi@snu.ac.kr.
Jazyk: angličtina
Zdroj: BMC medical genetics [BMC Med Genet] 2018 Sep 12; Vol. 19 (1), pp. 164. Date of Electronic Publication: 2018 Sep 12.
DOI: 10.1186/s12881-018-0682-x
Abstrakt: Background: Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of the carpal and tarsal bones associated with nephropathy. MCTO is caused by loss-of-function mutations in the MAF bZIP transcription factor B (MAFB) gene.
Case Presentation: This report describes three unrelated patients with MAFB mutations, including two male and one female patient. Osteolytic lesions in the carpal and tarsal bones were detected at 2 years, 12 years, and 14 months of age, respectively. Associated proteinuria was noted at 4 years, 12 years, and 3 months of age, respectively. Kidney biopsy was performed in two of them and revealed focal segmental glomerulosclerosis (FSGS). One patient showed progression to end-stage renal disease, that is by 1 year after the detection of proteinuria. The second patient had persistent proteinuria but maintained normal renal function. In the third patient, who did not undergo a kidney biopsy, the proteinuria disappeared spontaneously. The bony lesions worsened progressively in all three patients. Mutational study of MAFB revealed three different mutations, two novel mutations [c.183C > A (p.Ser61Arg) and c.211C > G (p.Pro71Ala)] and one known mutation [c.212C > T (p.Pro71Leu)].
Conclusion: We report three cases with MCTO and two novel MAFB mutations. The renal phenotypes were different among the three patients, whereas progressive worsening of the bony lesions was common in all patients. We also confirmed FSGS to be an early renal pathologic finding in two cases. A diagnosis of MCTO should be considered in patients with progressive bone loss concentrated primarily in the carpal and tarsal bones and kidney involvement, such as proteinuria.
Databáze: MEDLINE
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